Publications | International Center for Genetic Disease at Harvard Medical School

Gene Therapy in a Patient with Sickle Cell Disease.

Authors :Ribeil JA , Hacein-Bey-Abina S , Payen E , Magnani A , Semeraro M , Magrin E , Caccavelli L , Neven B , Bourget P , El Nemer W , Bartolucci P , Weber L , Puy H , Meritet JF , Grevent D , Beuzard Y , Chrétien S , Lefebvre T , Ross RW , Negre O , Veres G , Sandler L , Soni S , de Montalembert M , Blanche S , Leboulch P , Cavazzana M

Published On :2017 Mar 2

Case Reports Journal Article Research Support, Non-U.S. Gov't

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation.

Authors :Berry GT

Published On :2017 Sep

Journal Article

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Authors :Carlston CM , O'Donnell-Luria AH , Underhill HR , Cummings BB , Weisburd B , Minikel EV , Birnbaum DP , Exome Aggregation Consortium , Tvrdik T , MacArthur DG , Mao R

Published On :2017 May

Case Reports Journal Article Review Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types.

Authors :Chun S , Casparino A , Patsopoulos NA , Croteau-Chonka DC , Raby BA , De Jager PL , Sunyaev SR , Cotsapas C

Published On :2017 Apr

Journal Article

Relation of Low-Density Lipoprotein Cholesterol to Ischemic Stroke in Patients With Nonvalvular Atrial Fibrillation.

Authors :Qi Z , Chen H , Wen Z , Yuan F , Ni H , Gao W , Shen J , Li J , Lin Y , Shan Y , Jin B , Yan P , Shi H , Luo X

Published On :2017 Apr 15

Journal Article Research Support, Non-U.S. Gov't

Clinical manifestations of severe enterovirus 71 infection and early assessment in a Southern China population.

Authors :Yang SD , Li PQ , Li YM , Li W , Lai WY , Zhu CP , Tao JP , Deng L , Liu HS , Ma WC , Lu JM , Hong Y , Liang YT , Shen J , Hu DD , Gao YY , Zhou Y , Situ MX , Chen YL

Published On :2017 Feb 17

Journal Article Multicenter Study Observational Study

BMP signaling controls buckling forces to modulate looping morphogenesis of the gut.

Authors :Nerurkar NL , Mahadevan L , Tabin CJ

Published On :2017 Feb 28

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Authors :Kosmicki JA , Samocha KE , Howrigan DP , Sanders SJ , Slowikowski K , Lek M , Karczewski KJ , Cutler DJ , Devlin B , Roeder K , Buxbaum JD , Neale BM , MacArthur DG , Wall DP , Robinson EB , Daly MJ

Published On :2017 Apr

Journal Article

Non-invasive evaluation of facial crestal bone with ultrasonography.

Authors :Chan HL , Sinjab K , Chung MP , Chiang YC , Wang HL , Giannobile WV , Kripfgans OD

Published On :2017

Journal Article

Structure-Activity Relationship and Molecular Mechanics Reveal the Importance of Ring Entropy in the Biosynthesis and Activity of a Natural Product.

Authors :Tran HL , Lexa KW , Julien O , Young TS , Walsh CT , Jacobson MP , Wells JA

Published On :2017 Feb 22

Journal Article Research Support, N.I.H., Extramural

Programmable transcriptional repression in mycobacteria using an orthogonal CRISPR interference platform.

Authors :Rock JM , Hopkins FF , Chavez A , Diallo M , Chase MR , Gerrick ER , Pritchard JR , Church GM , Rubin EJ , Sassetti CM , Schnappinger D , Fortune SM

Published On :2017 Feb 6

Journal Article